Swept-source and optical coherence tomography angiography in patients with X-linked retinoschisis

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Abstract

<div class="section"> <a class="named-anchor" id="d5251274e189">  </a> <h5 class="section-title" id="d5251274e190">Purpose</h5> <p id="d5251274e192">To explore the structural features of juvenile X-linked retinoschisis (XLRS) using swept-source-optical coherence tomography (SS-OCT) and optical coherence tomography angiography (OCT-A). </p> </div><div class="section"> <a class="named-anchor" id="d5251274e194">  </a> <h5 class="section-title" id="d5251274e195">Design</h5> <p id="d5251274e197">Retrospective, observational cross-sectional study.</p> </div><div class="section"> <a class="named-anchor" id="d5251274e199">  </a> <h5 class="section-title" id="d5251274e200">Patients and methods</h5> <p id="d5251274e202">Nine patients (18 eyes) diagnosed with juvenile XLRS were included. SS-OCT and OCT-A were used to evaluate the characteristics of the inner/outer retina and the choroid. </p> </div><div class="section"> <a class="named-anchor" id="d5251274e204">  </a> <h5 class="section-title" id="d5251274e205">Results</h5> <p id="d5251274e207">SS-OCT showed that the inner nuclear layer (INL) was the most commonly affected area (16/18 eyes; 89%). No significant differences in central macular thickness (CMT) or subfield choroidal thickness (SFCT) were evidenced between eyes (CMT: 364 <i>μ</i>m in the right eye <i>vs</i> 320 <i>μ</i>m in the left eye; SFCT: 305 <i>vs</i> 307 <i>μ</i>m; <i>P</i>=0.895). Best-corrected visual acuity (BCVA) did not correlate with CMT (rs= −0.19; <i>P</i>=0.445) or SFCT (rs=0.06; <i>P</i>=0.795). BCVA was significantly correlated with the following defects: outer plexiform layer (OPL; rs=0.50; <i>P</i>=0.036); external limiting membrane (ELM; rs=0.65; <i>P</i>=0.003); ellipsoid portion of inner segment (EPIS; rs=0.67; <i>P</i>=0.002); and the cone outer segment tips (COST; rs=0.69; <i>P</i>=0.001). Schisis at the INL revealed a spoke-like pattern in the foveal region and a reticular pattern in the parafoveal region on en-face imaging. In cases in which the schisis affected the OPL, multiple polygonal hyporeflective cavities were observed in the foveal region. </p> </div><div class="section"> <a class="named-anchor" id="d5251274e247">  </a> <h5 class="section-title" id="d5251274e248">Conclusions</h5> <p id="d5251274e250">The hyporeflective spaces on SS-OCT were primarily located at the INL and OPL. BCVA did not correlate with CMT or SFCT; however, ELM, EPIS, and COST defects were significantly correlated with worse BCVA. There was a positive correlation between age and SFCT. </p> </div>

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X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms.

Robert Molday, Ulrich Kellner, Bernhard Weber (2012)

X-linked juvenile retinoschisis (XLRS, MIM 312700) is a common early onset macular degeneration in males characterized by mild to severe loss in visual acuity, splitting of retinal layers, and a reduction in the b-wave of the electroretinogram (ERG). The RS1 gene (MIM 300839) associated with the disease encodes retinoschisin, a 224 amino acid protein containing a discoidin domain as the major structural unit, an N-terminal cleavable signal sequence, and regions responsible for subunit oligomerization. Retinoschisin is secreted from retinal cells as a disulphide-linked homo-octameric complex which binds to the surface of photoreceptors and bipolar cells to help maintain the integrity of the retina. Over 190 disease-causing mutations in the RS1 gene are known with most mutations occurring as non-synonymous changes in the discoidin domain. Cell expression studies have shown that disease-associated missense mutations in the discoidin domain cause severe protein misfolding and retention in the endoplasmic reticulum, mutations in the signal sequence result in aberrant protein synthesis, and mutations in regions flanking the discoidin domain cause defective disulphide-linked subunit assembly, all of which produce a non-functional protein. Knockout mice deficient in retinoschisin have been generated and shown to display most of the characteristic features found in XLRS patients. Recombinant adeno-associated virus (rAAV) mediated delivery of the normal RS1 gene to the retina of young knockout mice result in long-term retinoschisin expression and rescue of retinal structure and function providing a 'proof of concept' that gene therapy may be an effective treatment for XLRS. Copyright © 2012 Elsevier Ltd. All rights reserved.

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Choroidal thickness in myopic and nonmyopic children assessed with enhanced depth imaging optical coherence tomography.

Scott A Read, Sarah Collins, S Vincent … (2013)

We examined choroidal thickness (ChT) and its topographic variation across the posterior pole in myopic and nonmyopic children. A total of 104 children aged 10 to 15 years (mean age, 13.1 ± 1.4 years) had ChT measured using enhanced depth imaging optical coherence tomography (OCT). Of these children 40 were myopic (mean spherical equivalent, -2.4 ± 1.5 diopters [D]) and 63 were nonmyopic (mean, +0.3 ± 0.3 D). Two series of 6 radial OCT line scans centered on the fovea were assessed for each child. Subfoveal ChT and ChT across a series of parafoveal zones over the central 6 mm of the posterior pole were determined through manual image segmentation. Subfoveal ChT was significantly thinner in myopes (mean, 303 ± 79 μm) compared to nonmyopes (mean, 359 ± 77 μm, P 3 mm diameter, P < 0.001). Myopic children have significantly thinner choroids compared to nonmyopic children of similar age, particularly in central foveal regions. The magnitude of difference in choroidal thickness associated with myopia appears greater than would be predicted by a simple passive choroidal thinning with axial elongation.

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Choroidal thickness in childhood.

Scott A Read, Michael J. Collins, Stephen J Vincent … (2013)

We examined choroidal thickness (ChT) and its spatial distribution across the posterior pole in pediatric subjects with normal ocular health and minimal refractive error.